Results 211 to 220 of about 1,035,719 (353)

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Deletion of the Dual Specific Phosphatase-4 (DUSP-4) Gene Reveals an Essential Non-redundant Role for MAP Kinase Phosphatase-2 (MKP-2) in Proliferation and Cell Survival [PDF]

, 2011
Ahmed Lawan, Sameer Alharthi, Laurence Cadalbert, A. McCluskey, Muhannad Shweash, Gianluca Grassia, Anne Grant, Marie Boyd, Susan Currie, Robin Plevin   +9 more
openalex   +1 more source

Bibliometric analysis of hepatocellular carcinoma and tyrosine kinase inhibitors. [PDF]

Medicine (Baltimore)
Wu W, Mao H, Song J, Yang F.
europepmc   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Genome-wide identification and unveiling the role of MAP kinase cascade genes involved in sugarcane response to abiotic stressors. [PDF]

BMC Plant Biol
Ali A, Zhao XT, Lin JS, Zhao TT, Feng CL, Li L, Wu RJ, Huang QX, Liu HB, Wang JG.   +9 more
europepmc   +1 more source

ADAPT NXT: Fixed Cycles or Every‐Other‐Week IV Efgartigimod in Generalized Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This phase 3b, open‐label, randomized ADAPT NXT study investigated the efficacy, safety, and tolerability of efgartigimod administered in either a fixed cycles dosing regimen (3 cycles of 4 once‐weekly infusions, with 4 weeks between cycles) or a cycle followed by every‐other‐week (Q2W) dosing.
Ali A. Habib, Kristl G. Claeys, Vera Bril, Yessar Hussain, Kelly Gwathmey, Gregory Sahagian, Elena Cortés‐Vicente, Edward Brauer, Deborah Gelinas, Anne Sumbul, Rosa H. Jimenez, Daniela Hristova, Delphine Masschaele, Renato Mantegazza, Andreas Meisel, Shahram Attarian, On behalf of the ADAPT NXT Study Group   +16 more
wiley   +1 more source

In Vitro Study of Vitamin D Effects on Immune, Endothelial, and Vascular Smooth Muscle Cells in Chronic Kidney Disease. [PDF]

Int J Mol Sci
Kamboj K, Kumar V, Yadav AK.
europepmc   +1 more source

Networks of WRKY transcription factors in defense signaling [PDF]

, 2007
Eulgem, T., Somssich, I.
core   +2 more sources

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

SEOR2 in Arabidopsis mediates Ca²⁺ dependent defense against phytoplasmas and reduction of plant growth. [PDF]

Sci Rep
Omenge K, Viscardo OC, De Oliveira Cantao FR, Santi S, van Bel AJE, Musetti R.   +5 more
europepmc   +1 more source